Keratoderma, Palmoplantar, with Deafness (PPKDFN)

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Disease Ontology 12 DOID:0111505 OMIM 56 148350 KEGG 36 H00716 MeSH 43 C536152 D007645 MESH via Orphanet 44 C536152 ICD10 via Orphanet 33 Q82.8

UMLS via Orphanet 72 C1835672 Orphanet 58 ORPHA2202 MedGen 41 C1835672 SNOMED-CT via HPO 68 103276001 15188001 263681008 343087000 60700002 706885006 95828007 more UMLS 71 C1835672

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2202 Definition Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype . The disease is transmitted in an autosomal dominant manner with incomplete penetrance . Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma with deafness, is related to nonsyndromic deafness and sensorineural hearing loss. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Disease Ontology : ¹² A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has material basis in heterozygous mutation in GJB2 on chromosome 13q12.11.

Genetics Home Reference : ²⁵ Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds. The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.

KEGG : ³⁶ Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.

UniProtKB/Swiss-Prot : ⁷³ Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

More information from OMIM: 148350

Clinical features from OMIM:

148350

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.